List of variants in gene SAMD9 studied for calcium metabolic disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_017654.4(SAMD9):c.1360G>A (p.Ala454Thr)	rs117649834	0.03101
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)	rs144380633	0.00655
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)	rs150107667	0.00542
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)	rs146087534	0.00091
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)	rs77922936	0.00078
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)	rs376829052	0.00018
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)	rs201122403	0.00004
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)	rs200178876	0.00004
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)	rs572380130	0.00003
NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter)	rs543007243	0.00001
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)	rs1470207548	0.00001
NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)	rs1290938428	0.00001
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter)	rs767558735	0.00001
NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp)	rs1455883160
NM_017654.4(SAMD9):c.132del (p.Val45fs)	rs1554337424
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)	rs375515095
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)	rs181767582
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)	rs778749748
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)	rs1554337029
NM_017654.4(SAMD9):c.29del (p.Asn10fs)	rs1356051307
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)	rs1554336918
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)	rs199887936
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)	rs755666547
NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile)	rs978197631
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)	rs121918554
NM_017654.4(SAMD9):c.95del (p.His32fs)	rs1085307093

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