List of variants in gene DSP reported as pathogenic for Cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00116
NM_004415.4(DSP):c.2436+2T>C	rs774514264	0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	rs767643821	0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)	rs1554108287	0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)	rs397516940	0.00001
NM_004415.4(DSP):c.939+1G>A	rs727504443	0.00001
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)	rs1249913357
NM_004415.4(DSP):c.1146del (p.Phe382fs)	rs397516913
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)	rs1057523045
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)	rs761380979
NM_004415.4(DSP):c.1386del (p.Leu463fs)	rs1758933837
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)	rs1464886350
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)	rs2533896507
NM_004415.4(DSP):c.2509C>T (p.Gln837Ter)
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	rs1057518920
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)	rs1561694696
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	rs730880082
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter)	rs1131691673
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	rs746877365
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs)	rs2113692271
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)	rs1554108152
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_004415.4(DSP):c.3932_3936del (p.Gln1311fs)
NM_004415.4(DSP):c.4009del (p.Glu1337fs)	rs794727381
NM_004415.4(DSP):c.4085T>A (p.Leu1362Ter)	rs1759383581
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)	rs770873593
NM_004415.4(DSP):c.4228_4229del (p.Lys1410fs)	rs2533927884
NM_004415.4(DSP):c.4423del (p.Thr1475fs)	rs1227662860
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)	rs2113659637
NM_004415.4(DSP):c.4536T>A (p.Tyr1512Ter)	rs2533929104
NM_004415.4(DSP):c.4552_4553del (p.Asn1518fs)	rs2533929133
NM_004415.4(DSP):c.4574_4575dup (p.Asn1526Ter)	rs2113694437
NM_004415.4(DSP):c.465del (p.Ile156fs)	rs1554105911
NM_004415.4(DSP):c.4778_4790del (p.Lys1593fs)	rs2533930254
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	rs397516943
NM_004415.4(DSP):c.4797del (p.Gly1600fs)	rs1759417776
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)	rs1060500610
NM_004415.4(DSP):c.4875del (p.Lys1626fs)	rs2533930676
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)	rs1581818649
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)	rs794728124
NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)	rs2533932461
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)	rs1394836623
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)	rs774763657
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)	rs869025395
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)	rs141026028
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)	rs794728130
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)	rs149701627

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