List of variants in gene ACVR1 reported by CeGaT Center for Human Genetics Tuebingen

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly)	rs13406336	0.00586
NM_001111067.4(ACVR1):c.180C>T (p.Asn60=)	rs55728089	0.00006
NM_001111067.4(ACVR1):c.521A>G (p.Asn174Ser)	rs374178479	0.00003
NM_001111067.4(ACVR1):c.361C>T (p.His121Tyr)	rs756858830	0.00002
NM_001111067.4(ACVR1):c.1242G>A (p.Val414=)	rs897756393	0.00001
NM_001111067.4(ACVR1):c.746C>T (p.Thr249Met)	rs760152551	0.00001
NM_001111067.4(ACVR1):c.115G>A (p.Gly39Ser)
NM_001111067.4(ACVR1):c.1178T>G (p.Val393Gly)	rs1574031130
NM_001111067.4(ACVR1):c.511A>C (p.Ile171Leu)	rs1686363688
NM_001111067.4(ACVR1):c.525T>C (p.Val175=)
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	rs121912678
NM_001111067.4(ACVR1):c.634G>C (p.Glu212Gln)	rs1686178589
NM_001111067.4(ACVR1):c.638G>A (p.Cys213Tyr)	rs778765499
NM_001111067.4(ACVR1):c.920G>A (p.Arg307Gln)	rs766547414
NM_001111067.4(ACVR1):c.957G>C (p.Leu319Phe)

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